Pathogenic mechanisms of Leber hereditary optic neuropathy caused by m.3472T>C mutation
Zhejiang Da Xue Xue Bao Yi Xue Ban. 2025 Nov 12:1-11. doi: 10.3724/zdxbyxb-2025-0241. Online ahead of print. ABSTRACT OBJECTIVES: To investigate the molecular mechanism underlying Leber hereditary optic neuropathy (LHON) caused by the m.3472T>C (p.Phe56Leu) mutation. METHODS: From a cohort of 1397 LHON patients, three large pedigrees (WZL122, WZ676, WZ706) carrying the m.3472T>C mutation were […]
Formulation and evaluation of probucol-LCA nanoparticles for supressing oxidative stress-related retinal degeneration
Drug Deliv Transl Res. 2025 Nov 18. doi: 10.1007/s13346-025-02010-8. Online ahead of print. ABSTRACT Retinal degenerative diseases are a major cause of vision loss worldwide, with oxidative stress being a key pathological driver. This study aimed to develop and evaluate probucol-lithocholic acid (LCA) nanoparticles for targeted retinal protection. Nanoparticles were formulated via spray drying of […]
IDH3A-related retinal dystrophy with bilateral macular pseudocoloboma in a 2-month-old infant
Ophthalmic Genet. 2025 Nov 18:1-4. doi: 10.1080/13816810.2025.2590165. Online ahead of print. ABSTRACT BACKGROUND: Among the genes implicated in inherited retinal degenerations (IRDs), disease-causing variants in IDH3A have recently been reported, although they remain exceedingly rare. In some cases, these variants are associated with macular pseudocoloboma. IDH3A encodes the alpha subunit of the mitochondrial NAD+-dependent isocitrate […]
Mfn2 Regulates Scleral Remodeling in Myopia by Maintaining Endoplasmic Reticulum Homeostasis in Scleral Fibroblasts
Invest Ophthalmol Vis Sci. 2025 Nov 3;66(14):40. doi: 10.1167/iovs.66.14.40. ABSTRACT PURPOSE: Endoplasmic reticulum (ER) stress participates in the development of various disorders by regulating tissue remodeling and apoptosis. This study aimed to explore the regulatory role of mitofusin 2 (Mfn2)-mediated ER stability in scleral remodeling in myopia. METHODS: Myopia was induced in rats by form […]
Activation of cGAS-STING signaling in senescent cells promotes the aging process by remodeling the functions of the immune system
Biogerontology. 2025 Nov 16;27(1):4. doi: 10.1007/s10522-025-10353-5. ABSTRACT An accumulation of senescent cells within tissues is a hallmark of the aging process. Cellular senescence is associated with an increased level of cytosolic dsDNA which primarily originates from a leakage of mitochondrial DNA (mtDNA) and a loss of genomic DNA integrity. Cytosolic dsDNA is an important alarming […]
Ophthalmotoxicology of Polyhalogenated Compounds
Toxicology. 2025 Nov 13:154337. doi: 10.1016/j.tox.2025.154337. Online ahead of print. ABSTRACT Polyhalogenated compounds (PHCs), including polychlorinated biphenyls (PCBs), polybrominated diphenyl ethers (PBDEs), polychlorinated dibenzodioxins (PCDDs), polychlorinated dibenzofurans (PCDFs) and per- and polyfluoroalkyl substances (PFAS), are persistent organic pollutants that bioaccumulate in tissues and are increasingly recognized as threats to human health. While their neurotoxic and […]
Advances in the genetics and pathology of Lewy body dementia
Lancet Neurol. 2025 Dec;24(12):1026-1037. doi: 10.1016/S1474-4422(25)00363-1. ABSTRACT Lewy body dementia is a heterogeneous disease that is underdiagnosed and poorly understood. Pathologically, Lewy body dementia is characterised by the accumulation of intraneuronal aggregates of misfolded α-synuclein, known as Lewy bodies and Lewy neurites. The genetic architecture of Lewy body dementia is complex, involving both common genetic […]
N-acetylcysteine amide alleviates pathological neovascularization through mitochondrial protection and energy metabolism reprogramming of vascular endothelial cells
Redox Biol. 2025 Nov 7;88:103907. doi: 10.1016/j.redox.2025.103907. Online ahead of print. ABSTRACT Hypoxia-induced pathological neovascularization is a major contributing factor to a variety of diseases across different age groups. Currently, the predominant therapeutic approach involves the repeated injection of anti-vascular endothelial growth factor (VEGF) agents, which are associated with several adverse effects that limit their […]
Clinicopathologic Correlation Between Lens Epithelial Cells and Capsular Bag Behavior in Intumescent White Cataracts
Am J Ophthalmol. 2025 Nov 13:S0002-9394(25)00600-2. doi: 10.1016/j.ajo.2025.11.014. Online ahead of print. ABSTRACT PURPOSE: To characterize the ultrastructural features of lens epithelial cells (LECs) in intumescent white cataracts and investigate their potential role in capsular bag behavior following cataract surgery. DESIGN: Pathological analysis and case-control study. METHODS: For pathological analysis, anterior lens capsules (including basement […]
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency
Brain. 2025 Nov 14:awaf430. doi: 10.1093/brain/awaf430. Online ahead of print. ABSTRACT This retrospective study on X-linked PDHA1-related pyruvate dehydrogenase complex (PDHc) deficiency combined a systematic literature review with a multicenter survey exploring genotypes, phenotypes, and survival. Data from 891 individuals (45% unpublished) were included. Of note, 53% of cases were females. Median age at last […]